Congenital Syndromes

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jvirbalas
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236857
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Congenital Syndromes
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2013-11-11 22:16:38
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Congenital Syndromes
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Congenital Syndromes
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  1. Three clinical components of Pierre Robin Syndrome
    • Micrognathia
    • Glossoptosis
    • Cleft Palate (+/-)
    • Airway management: prone positioning-> nasopharyngeal tube-> surgery (mandibular adv, trach)
  2. Can children with clefts breast feed?
    • Cleft lip: yes
    • cleft palate: no. Bottle feed with Haberman feeder/teat
  3. What is Stickler Syndrome?
    • Progressive, autosomal dominant connective tissue disorder
    • Oral-facial abnormalities (eg button nose, cleft), ocular abn (eg retinal detachment), auditory abd (high freq SNHL), skeletal abd (degenerative joint dz, pain), family hx or collagen mutation
  4. What syndrome is associated with lip pits?
    • Van Der Woude syndrome
    • Lip pits and cleft lip/palate (or one finding with a 1st degree relative with the other)
  5. Characteristics of Velocardiofacial Syndrome (DiGeorge, Catch-22)
    • Cardiac (conotruncal heart defects)
    • Abnormal facies (Malar flattening with elongated facial height)
    • Thymus deficiency
    • Cleft palate
    • Hypocalcemia (hypoparathyroid)
    • Chromosome 22 microdeletion
    • LARYNGEAL WEBS (FISH test pts with webs)
    • VELOPHARYNGEAL INSUFFICIENCY (FISH test pts with VPI)
    • Medialized carotid artery (if considering VPI surgery)
    • Overfolding helix, cup ear
    • Ophthalmologic disorders
  6. Treacher Collins is a defect of which branchial arches?
    • 1st and 2nd
    • Mutations traced to chromosome 5.
    • Autosomal dominant (40% with affected parent)
  7. Clinical characteristics of Treacher Collins?
    • Midface hypoplasia (89%)
    • Down sloping palpebral fissures
    • micrognathia/retrognathia (78%)
    • Lower eyelid abnormalities (coloboma, absent lashes) [Goldenhar UPPER eyelid affected]
    • Microtia (36%)
    • Cleft (28%)
    • Vision defects, CHL due to ossicular abn, choanal atresia
  8. What are the characteristics of Goldenhar syndrome?
    • Also called oculoauriculovertebral spectrum, or hemifacial microsomia
    • 1st and 2nd branchial arches affected
    • Ocular, ear abnormalities
    • epibulbar dermoids
    • upper eyelid colobomas (TC has LOWER eyelid colobomas)
    • vertebral malformations
  9. Diagnostic criteria for CHARGE syndrome
    • Major:
    • - coloboma (not of the eyelid), micropthalmos, anopothalmos
    • - Pinna abnormality (short, wide, asymmetric ear without lobe)
    • - Choanal atresia
    • - Cranial nerve abn (CNII decreased smell in >90%; IX/X swallowing difficulties; VII facial paralysis)
    • - ossicular, cochlear malformation, small SCC
    • Minor:
    • - square face, prominent forehead
    • - cleft
    • - hockey stick palmar crease
    • - heart, kidney genital abn
  10. What is the most common syndromic form of hereditary sensorineural hearing loss?
    • Pendred syndrome
    • inherited in an autosomal recessive fashion
    • affected individuals also have goiter
  11. What is Branchio-oto-renal Syndrome?
    • A wide variety of otologic findings, can involve the external, middle, or inner ear.
    • Hearing impairment (CHL, SNHL, or mixed) is the most common feature of BOR syndrome and is reported in almost 90% of affected individuals.
    • Branchial anomalies occur in the form of laterocervical fistulas, sinuses, and cysts
    • renal anomalies ranging from agenesis to dysplasia (25%
  12. Diagnostic criteria for neurofibromatosis, type 2?
    (1) bilateral vestibular schwannomas that usually develop by the second decade of or (2) a family history of NF2 in a first-degree relative, plus one of the following: unilateral vestibular schwannomas at less than 30 years of age, or any two of meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
  13. Diagnostic criteria for Stickler syndrome?
    • (1) congenital vitreous anomaly
    • and (2) any three of myopia with onset before age 6 years, rhegmatogenous retinal detachment or paravascular pigmented lattice degeneration, joint hypermobility with abnormal Beighton score, SNHL (audiometric confirmation), or midline clefting.
  14. Which type of Stickler has worst HL? Best vision?
    • SS type 3 tend to have moderate to severe hearing lss, patients with SS type 1 have either normal hearing or only a mild impairment, and patients with SS type 2 fall in between
    • SS type 2 is due to missense or in-frame deletion mutations in COL11A2, and is unique in that there are no ocular abnormalities because COL11A2 is not expressed in the vitreous
  15. Describe the 4 types of Waardenburg syndrome?
    • WS type 1 is recognized by SNHL, white forelock, pigmentary disturbances of the iris, and dystopia canthorum, a specific displacement of the inner canthi and lacrimal puncti.
    • WS type 2 is like WS type 1 with absence of dystopia canthorum
    • WS type 3 is like WS type 1 with the addition of hypoplasia or contracture of the upper limb
    • WS type 4 involves Hirschsprung disease
  16. Describe Treacher-Collins syndrome
    • autosomal dominant
    • characterized by maldevelopment of the maxilla and mandible, with abnormal canthi placement, ocular colobomas, choanal atresia, and conductive hearing loss secondary to ossicular fixation.
  17. Describe Pendred's syndrome
    • hearing loss is usually congenital and severe to profound, although progressive mild to moderate SNHL is sometimes seen
    • recessive
    • B/L dilation of the vestibular aqueduct is common
    • Euthyroid goiter, Thyroid dysfunction can be shown with a perchlorate discharge test
  18. Describe Jervell and Lange-Nielsen syndrome
    • Recessive
    • Prolonged QT
    • Hearing impairment is due to changes in endolymph homeostasis caused by malfunction of this channel and is congenital, bilateral, and severe to profound
    • Effective treatment with Ī²-adrenergic blockers reduces mortality from 71% to 6%
  19. Describe 3 types of Usher Syndrome
    • Type 1 (profound), severe to profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa that develops in childhood
    • type 2 (severe), moderate to severe congenital hearing loss, with uncertainty related to progression, no vestibular dysfunction, and retinal degeneration that begins in the third to fourth decade
    • type 3 (variable), progressive hearing loss, variable vestibular dysfunction, and variable onset of retinitis pigmentosa
  20. Describe the heritability of Alport's syndrome
    • predominantly X-linked (approximately 80%), can be autosomal recessive or dominant
    • disease of type IV collagen that is manifested by hematuric nephritis, hearing impairment, and ocular change
  21. ___% of congenital hearing loss is hereditary
    ___% of hereditary hearing loss is syndromic
    ___% of nonsyndromic HL is recessive
    • 60% hereditary
    • 30% syndromic
    • 80% recessive
  22. -Complete aplasia of labyrinthine capsule
    -Cochleosaccular dysgenesis, limited to the membranous portion of the pars inferior
    -Arrested development of the labyrinthine capsule results in incomplete partition and a dilated vestibular aqueduct
    • Michels aplasia
    • Scheibes aplasia
    • Mondini malformation
  23. Name some autosomal dominant forms of syndromic hearing losss
    • brachio-oto-renal syndrome
    • neurofibromatosis
    • osteogenesis imperfecta
    • otosclerosis
    • stickler syndrome
    • treacher Collins syndrome
    • waardenburg syndrome
  24. Autosomal recessive causes of syndromic hearing loss
    • jervell and Lange-Nielsen syndrome
    • pendred syndrome
    • usher syndrome
  25. Mitochondrial disorders causing hearing loss
    • Kearns-Sayre
    • myoclonic epilepsy with ragged red fibers (MERRF)
    • Leber hereditary optic neuropathy
    • Susceptibility to aminoglycosides
  26. Syndrome comprisingĀ fused cervical vertebrae, SNHL or mixed hearing loss related to bony malformation of the inner ear.
    Klippel-Feil
  27. Syndrome associated with mutation in FGFR2 can produce stapes fixation, patent cochlear aqueduct, large subarcuate fossa.
    Apert syndrome
  28. Two interoperative considerations when performing a cochlear implant on patients with a cochlear malformation.
    • facial nerve anomalies
    • CSF leaks through the cochleostomy

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